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ba0003pp158 | Cell biology: osteoclasts and bone resorption | ECTS2014

Study of the molecular effects of disease-causing mutations in RANK using human protein expression models

Das Subhajit , Bramham Janice , Duthie Angela , Clark Susan , Crockett Julie

The interaction of Receptor Activator of NFkB ligand (RANKL) with its cognate receptor RANK is crucial for osteoclast formation. We studied eight point mutations within human RANK associated with rare forms of osteopetrosis to gain mechanistic insights into the regulation of RANK signalling.We investigated the role of the oligomerisation domain within the cytoplasmic region of RANK studying two mutations (W434X and G280X) identified in rare cases of oste...

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ba0002p138 | (1) | ICCBH2013

Rare mutations associated with osteoclast-poor osteopetrosis provide molecular insights into receptor activator of NFκβ signalling

Crockett Julie , Das Subhajit , Dignan Cahal , Mellis David , Duthie Angela , Sobacchi Cristina , Schulz Ansgar , Helfrich Miep

Twelve different mutations in TNFRSF11A (encoding the RANK receptor) have been associated with osteoclast-poor autosomal recessive osteopetrosis in patients. Two truncated RANK proteins resulting from substitution mutations (W434X and G280X), identified in two infants, cause loss of the intracellular oligomerisation motif and in the case of the G280X mutation the TRAF6 binding domain. A third mutation was identified in a 10-year-old patient and is a frameshift mutatio...

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Bone Abstracts

Study of the molecular effects of disease-causing mutations in RANK using human protein expression models

Rare mutations associated with osteoclast-poor osteopetrosis provide molecular insights into receptor activator of NFκβ signalling

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